检验医学与临床2024，Vol.21Issue(1)：1-7,7.DOI:10.3969/j.issn.1672-9455.2024.01.001
结直肠癌组织中MMR蛋白表达、MSI、RAS和BRAF基因突变与临床病理特征的关系
Relationship between mismatch repair protein expression,MSI,RAS and BRAF gene mutation in colorectal cancer tissues with clinicopathological characteristics
摘要
Abstract
Objective To investigate the relationship between the mismatch repair protein(MMR protein)expression,microsatellite instability(MSI),rat sarcoma gene(RAS)and carcinogenic homolog B1 gene(BRAF)gene mutation in colorectal cancer(CRC)tissues with the clinicopathologic features.Methods The tumor tissue and blood samples in 352 patients with colorectal cancer receiving the radical operation treatment and the mass tumor tissue and blood samples in 42 patients with non-intestinal cancer in this hospital from January to December 2022 were collected.The immunohistochemistry was used to detect the MMR protein,the first generation sequencing fragment analysis was performed to detect MSI,and the real-time quantitative PCR was used to detect the gene mutation status of KRAS,NRAS and BRAF.The relationship between MMR protein expression,MSI and three gene mutation states with the clinicopathologic features of CRC was ana-lyzed.Results In the tumor tissues of 352 patients with CRC,the 29 cases(8.2％)of MMR(dMMR)and 26 cases(7.4％)of MSI-H were detected respectively.The mutation rates of KRAS,NRAS,BRAF genes were 45.7％(161 cases),3.7％(13 cases)and 3.1％(11 cases),respectively.The factors associated with dMMR were the age,mucinous carcinoma and originated from right-sided colon cancer.The factors associated with MSI-H included the low age,family tumor history and originated from right-sided colon cancer(P＜0.05).High mutation rates of KRAS and NRAS genes were related with mucinous adenocarcinoma and lymph node metastasis,respectively.High BRAF mutation rate was associated with poor differentiation and originated from fright-sided colon cancer(P＜0.05).The BRAF gene mutation was related with dMMR and MSI-H.Conclusion The MMR protein expression,MSI status,and the gene mutations of KRAS,NRAS and BRAF are correlated with different clinicopathologic features.The combined detection of these five molecular mark-ers could be used to classify the tumor molecules,which further provides the theoretical basis for the individu-alized precision diagnosis and treatment of the patients with CRC.关键词
结直肠癌/大鼠肉瘤基因/致癌同源体B1基因/错配修复蛋白/微卫星不稳定性/基因突变Key words
colorectal cancer/rat sarcoma gene/carcinogenic homolog B1 gene/mismatch repair protein/microsatellite instability/gene mutation分类
医药卫生引用本文复制引用
向林果,谭憬一,姚远,孙雪琴,张阳丽..结直肠癌组织中MMR蛋白表达、MSI、RAS和BRAF基因突变与临床病理特征的关系[J].检验医学与临床,2024,21(1):1-7,7.基金项目
重庆市科卫联合医学科研项目(2020FYYX145). （2020FYYX145）
